Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients

Journal of Medical Genetics
Christiane ZweierAnita Rauch

Abstract

Haploinsufficiency of the gene encoding for transcription factor 4 (TCF4) was recently identified as the underlying cause of Pitt-Hopkins syndrome (PTHS), an underdiagnosed mental-retardation syndrome characterised by a distinct facial gestalt, breathing anomalies and severe mental retardation. TCF4 mutational analysis was performed in 117 patients with PTHS-like features. In total, 16 novel mutations were identified. All of these proven patients were severely mentally retarded and showed a distinct facial gestalt. In addition, 56% had breathing anomalies, 56% had microcephaly, 38% had seizures and 44% had MRI anomalies. This study provides further evidence of the mutational and clinical spectrum of PTHS and confirms its important role in the differential diagnosis of severe mental retardation.

Citations

May 6, 2011·Human Genetics·Antje BrockschmidtRuthild G Weber
Nov 26, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jill A RosenfeldLisa G Shaffer
Mar 9, 2010·Italian Journal of Pediatrics·Grazia TaddeucciEnrico Tarantino
Feb 18, 2012·Clinical Genetics·C V M SteinbuschC T R M Schrander-Stumpel
Jan 5, 2011·American Journal of Medical Genetics. Part a·Wen-Hann TanLynne M Bird
Jun 21, 2012·Developmental Medicine and Child Neurology·Ingrid D C Van BalkomRaoul C M Hennekam
Jun 15, 2011·American Journal of Medical Genetics. Part a·Daphne LehalleJill Clayton-Smith
Jun 15, 2011·American Journal of Medical Genetics. Part a·Giuseppe MarangiMarcella Zollino
Nov 21, 2012·American Journal of Medical Genetics. Part a·Massimiliano RossiDamien Sanlaville
Jul 21, 2012·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Zhi-Wen Pan, Ji-Cheng Li
Jun 9, 2012·American Journal of Medical Genetics. Part a·Giuseppe MarangiMarcella Zollino
Mar 3, 2012·American Journal of Medical Genetics. Part a·Roksana ArmaniJohn Christodoulou
Jul 11, 2012·Human Mutation·Marc ForrestDerek J Blake
May 20, 2014·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Laurie E Seltzer, Alex R Paciorkowski
Feb 13, 2016·Practical Neurology·Abhijit Dixit, Mohnish Suri
Apr 14, 2016·Orphanet Journal of Rare Diseases·Channa F de WinterRaoul C M Hennekam
Aug 30, 2016·Cell Reports·Andrew J KennedyJ David Sweatt
Apr 5, 2017·Translational Psychiatry·M J MoenR A Poot
Dec 19, 2012·Journal of Child Neurology·Adlette InatiRaya Saab
Jan 11, 2018·Journal of Child Neurology·Kimberly GoodspeedSailaja Golla
Nov 19, 2017·American Journal of Medical Genetics. Part a·Bo Hoon LeeAlex R Paciorkowski
Jan 25, 2019·Clinical Genetics·Marcella ZollinoRaoul C Hennekam
Mar 5, 2019·Acta Neuropathologica·Malte HellwigUlrich Schüller
Oct 31, 2018·Journal of the International Neuropsychological Society : JINS·Alexander TanVeronica Bordes Edgar
Apr 1, 2018·International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience·Yedan LiuZongbo Chen
Apr 30, 2014·American Journal of Medical Genetics. Part a·Wen-Hann TanCharles A Williams
Mar 1, 2017·Current Genetic Medicine Reports·Matthew D Rannals, Brady J Maher
Aug 9, 2020·Frontiers in Neuroanatomy·Hyojin KimBenjamin D Philpot
Jan 9, 2021·Translational Psychiatry·José R TeixeiraFabio Papes

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